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Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Patients with classic infantile-onset Pompe disease usually present with hypertrophic cardiomyopathy and die before 1 year of age, if not treated with enzyme replacement therapy (ERT). In comparison, patients wit...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Lee, Dong-Hwan, Qiu, Wen-Juan, Lee, Jeongho, Chien, Yin-Hsiu, Hwu, Wuh-Liang
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241200/
https://ncbi.nlm.nih.gov/pubmed/25213570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_339
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